Results 131 to 140 of about 37,333 (227)

A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma [PDF]

, 2003
M. Ashwin Reddy
openalex   +1 more source

Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis

, 2014
Cecilia Jakobsson, Ihab Saad Othman, F Munier, Daniel F. Schorderet, Hana Abouzeid   +4 more
openalex   +2 more sources

A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature. [PDF]

Ophthalmic Genet, 2022
Chiu N, Lee W, Liu PK, Levi SR, Wang HH, Chen N, Kang EY, Seo GH, Lee H, Liu L, Wu WC, Tsai SH, Wang NK.   +12 more
europepmc   +1 more source

Large deletions of theKCNV2gene are common in patients with cone dystrophy with supernormal rod response [PDF]

, 2011
Bernd Wissinger, Simone Schaich, Britta Baumann, Michael Bonin, Herbert Jägle, Christoph Friedburg, Balázs Varsányi, Carel B. Hoyng, Hélène Dollfus, John R. Heckenlively, Thomas Rosenberg, Günter Rudolph, Ulrich Kellner, R. Salati, Astrid S. Plomp, Elfride De Baere, Monika Andrassi-Darida, Alexandra Sauer, Christiane Wolf, Ditta Zobor, Antje Bernd, Bart P. Leroy, Péter Enyedi, Frans P.M. Cremers, Birgit Lorenz, Eberhart Zrenner, Susanne Kohl   +26 more
openalex   +1 more source

Correlation between fundus autofluorescence and visual function in patients with cone-rod dystrophy. [PDF]

Sci Rep, 2021
Kanda S, Hara T, Fujino R, Azuma K, Soga H, Asaoka R, Obata R, Inoue T.   +7 more
europepmc   +1 more source

Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy

, 2013
Li Huang, Shiqiang Li, Xueshan Xiao, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Qingjiong Zhang   +6 more
openalex   +2 more sources

Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7. [PDF]

Mol Vis, 2021
Zou X, Yao F, Li F, Wu S, Li H, Sun Z, Zhu T, Wei X, Li D, Sui R.   +9 more
europepmc   +1 more source

Modeling Cone/Cone-Rod Dystrophy Pathology by AAV-Mediated Overexpression of Mutant CRX Protein in the Mouse Retina. [PDF]

Transl Vis Sci Technol, 2021
Wang Y, Li X, Yu Y, Liang J, Liu Y, Chen Y, Bai X, Chen J, Wang F, Luo X, Sun X.   +10 more
europepmc   +1 more source

Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.

Genetics in Medicine
Christina Zeitz, Julien Navarro, Leila Azizzadeh Pormehr, C. Méjécase, Luiza M. Neves, C. Letellier, C. Condroyer, S. Albadri, Andréa Amprou, A. Antonio, Tasnim Ben-Yacoub, J. Wohlschlegel, Camille Andrieu, Malo Serafini, Lorenzo Bianco, Alessio Antropoli, M. Nassisi, S. El Shamieh, S. Chantot-Bastaraud, S. Mohand-Saïd, V. Smirnov, J. Sahel, F. Del Bene, I. Audo   +23 more
semanticscholar   +1 more source

Electrophysiological and Pupillometric Abnormalities in PROM1 Cone-Rod Dystrophy. [PDF]

Transl Vis Sci Technol, 2020
Park JC, Collison FT, Fishman GA, McAnany JJ.   +3 more
europepmc   +1 more source